Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. |
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| Authors: | Fred H Menko Rob B van der Luijt Irene A J de Valk Arno W F T Toorians Jan M Sepers Paul J van Diest Cornelis J M Lips |
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| Affiliation: | Department of Clinical Genetics and Human Genetics, Vrije Universiteit Medical Center, 1007 MB Amsterdam, The Netherlands. fh.menko.humgen@med.vu.nl |
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| Abstract: | A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed. |
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